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dbVar

Database of genomic structural variation

nsv6118279

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:308

Description:nsv5435276 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 222 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):197,864,310-197,864,617

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6118279	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	197,864,310	197,864,617
nsv6118279	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	197,591,181	197,591,488

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17665224	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17665224	Remapped	Perfect	NC_000003.12:g.197 864310_197864617de l	GRCh38.p12	First Pass	NC_000003.12	Chr3	197,864,310	197,864,617
nssv17665224	Submitted genomic		NC_000003.11:g.197 591181_197591488de l	GRCh37 (hg19)		NC_000003.11	Chr3	197,591,181	197,591,488

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17665224	0.256	1642	6404

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